Chorea acanthocytosis (CHAC)
Evidence-based neurology checklist on chorea acanthocytosis (chac): Genetics This is caused by mutations in the VPS13A gene The gene encodes chorein The transmission is autosomal recessive Central clinical features Clinical differential diagnosis Differential diagnosis: disorders associated with…
Genetics
- This is caused by mutations in the VPS13A gene
- The gene encodes chorein
- The transmission is autosomal recessive
Central clinical features
Clinical differential diagnosis
Differential diagnosis: disorders associated with acanthocytes
Differential diagnosis: disorders associated with occasional acanthocytes
References
- Walker S, Dad R, Thiruvahindrapuram B, et al. Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing. Neurol Genet. 2018; 4:e242.
- Kobal J, Dobson-Stone C, Danek A, Fidler V, Zvan B, Zaletel M. Chorea-acanthocytosis presenting as dystonia. Acta Clin Croat 2014; 53:107-112.
- Benninger F, Afawi Z, Korczyn AD, et al. Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation. Epilepsia 2016; 57:549-556.
- Al-Asmi A, Jansen AC, Badhwar A, et al. Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. Epilepsia 2005; 46:1256-1263.
- Weber J, Frings L, Rijntjes M, et al. Chorea-acanthocytosis presenting as autosomal recessive epilepsy in a family with a novel VPS13A mutation. Front Neurol 2019; 9:1168.
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